nsv984523
- Organism: Homo sapiens
- Study:nstd91 (Sallustio et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:26,534
- Publication(s):Sallustio et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 545 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv984523 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 45,345,820 | 45,372,353 |
| nsv984523 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 46,765,735 | 46,792,268 |
| nsv984523 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 45,590,163 | 45,616,696 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv3217199 | copy number loss | SNP array | SNP genotyping analysis | Glomerulonephritis, IGA | association | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217199 | Remapped | Perfect | NC_000021.9:g.(453 45820_?)_(?_453723 53)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 45,345,820 | 45,372,353 |
| nssv3217199 | Remapped | Perfect | NC_000021.8:g.(467 65735_?)_(?_467922 68)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 46,765,735 | 46,792,268 |
| nssv3217199 | Submitted genomic | NC_000021.7:g.(455 90163_?)_(?_456166 96)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 45,590,163 | 45,616,696 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|
| nssv3217199 | NCBI36: NC_000021.7:g.(45590163_?)_(?_45616696)del | copy number loss | Glomerulonephritis, IGA | association | Submitter |